Lege Artis Medicinae

[NOVEL RESULTS ON SYSTEMIC LUPUS ERYTHEMATOSUS]

KISS Emese, GERGELY Péter, SZEGEDI Gyula

APRIL 20, 2005

Lege Artis Medicinae - 2005;15(04)

[Systemic lupus erythematosus is an autoimmune disorder. It stands at the focus of medical interest: basic scientists, clinicians and innovative biotechnologists all pay attention to lupus. Authors of this article present the novel scientific results on the etiopathogenesis, clinical and laboratory characteristics of SLE. Furthermore, authors discuss diagnostic problems and the possible therapeutic modalities. One of the most important results is the characterisation and mapping of the susceptibility genes as well as the analysis of their functional features. More and more is known about the relationship between natural and adaptive immunity, about the cooperation of T and B cells. The abnormalities of intracellular biochemical processes and signal transduction pathways have been cleared. The importance of cytokine network and infective agents in the pathogenesis of SLE has largely been investigated recently. With regards to the outcome of the disease, there is growing attention paid on chronic organ damages, such as end-stage renal disease, osteoporosis and atherosclerosis - in connection with the increased life expectancy. Evidence accumulates on the importance of immune-inflammatory processes in the initiation and perpetuation of osteoporosis and atherosclerosis. There is an urgent need for validated biomarkers which can predict the susceptibility, prognosis, clinical manifestations, activity and severity of SLE. To follow and measure the effectiveness of treatment is also required. Although the principals of lupus management have not changed, novel immune modulators, biological therapy and non-medical treatments (e.g. stem-cell transplantation) have become available. Further research and clinical observations may help to find the real place of such therapeutics.]

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Lege Artis Medicinae

[Methotrexate inhibits the glyoxalase system in vivo in children with acute lymphoid leukaemia]

BARTYIK Katalin, TÚRI Sándor, OROSZ Ferenc, KARG Eszter

Lege Artis Medicinae

[SCIENTIFIC DIGEST]

Lege Artis Medicinae

[CLINICAL EXAMINATION OF ENZYME CATALASE AND ITS MUTATIONS IN HUNGARY]

GÓTH László

[Hydrogen peroxide is formed during physiological and pathological processes in the human body. Hydrogen peroxide in high concentration and its more reactive compound (hydroxyl radical) can damage cells. Recent findings show that hydrogen peroxide in low concentration is required for many physiological pathways of cell signaling such as diabetes, platelet activation, inflammation, immune response. In human tissues the steady state concentration of hydrogen peroxide changes between 0.1 nmol/l-100 micromol/l. The main regulator of hydrogen peroxide metabolism is the enzyme catalase. This enzyme has a fast and high activity on high hydrogen peroxide concentrations and it shows a weak effect on its physiologic concentration. Acatalasemia, the inherited deficiency of enzyme catalase seems to be rather a syndrome than a simple enzyme deficiency as it was thought earlier. It is associated with changes in lipid, carbohydrate and erythrocyte metabolisms. Contrary to the the worldwide (11 countries) distribution of acatalasemia only two syndrome causing catalase mutations have been reported from Japan. Recently, four novel catalase mutations detected in one acatalasemic and 12 hypocatalasemic Hungarian families which mutations are responsible for the decreased catalase activity.]

Lege Artis Medicinae

[THE VALUE OF EXHALED NITRIC OXIDE IN ASTHMA BRONCHIALE - DIFFERENTIAL DIAGNOSIS AND MANAGEMENT]

HORVÁTH Ildikó

[Although the differential diagnosis of asthma is simple in most cases, there are cases causing difficulties. Beside as an aid in diagnosis, there is a growing need for new tests to monitor airway inflammation to optimize and monitor the effect of treatment. Following the traditional methods used in everyday clinical practice a new method, the measurement of exhaled nitric oxide was introduced in the past decade. With this method, completely new information can be obtained about asthma supplementing other results in diagnosis making and disease monitoring. It is also expected to become the part of clinical practice in the next few years. The concentration of exhaled nitric oxide is elevated in asthmatic patients and its elevation is positively related to the degree of eosinophilic airway inflammation and symptoms. This measurement is approved in the European Union and in the USA for clinical use to monitor the effectiveness of anti-inflammatory treatment in asthma.]

Lege Artis Medicinae

[STELLAR - Metabolic syndrome ]

MATOS Lajos

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Creutzfeldt-Jakob Disease: A single center experience and systemic analysis of cases in Turkey

USLU Ilgen Ferda, ELIF Gökçal, GÜRSOY Esra Azize, KOLUKISA Mehmet, YILDIZ Babacan Gulsen

We aimed to analyze the clinical, laboratory and neuroimaging findings in patients with sporadic Creutzfeldt-Jakob disease (CJD) in a single center as well as to review other published cases in Turkey. Between January 1st, 2014 and June 31st, 2017, all CJD cases were evaluated based on clinical findings, differential diagnosis, the previous misdiagnosis, electroencephalography (EEG), cerebrospinal fluid and cranial magnetic resonance imaging (MRI) findings in our center. All published cases in Turkey between 2005-2018 were also reviewed. In a total of 13 patients, progressive cognitive decline was the most common presenting symptom. Two patients had a diagnosis of Heidenhain variant, 1 patient had a diagnosis of Oppenheimer-Brownell variant. Seven patients (53.3%) had been misdiagnosed with depression, vascular dementia, normal pressure hydrocephalus or encephalitis. Eleven patients (87%) had typical MRI findings but only 5 of these were present at baseline. Asymmetrical high signal abnormalities on MRI were observed in 4 patients. Five patients (45.4%) had periodic spike wave complexes on EEG, all appeared during the follow-up. There were 74 published cases in Turkey bet­ween 2005 and 2018, with various clinical presentations. CJD has a variety of clinical features in our patient series as well as in cases reported in Turkey. Although progressive cognitive decline is the most common presenting symptom, unusual manifestations in early stages of the disease might cause misdiagnosis. Variant forms should be kept in mind in patients with isolated visual or cerebellar symptoms. MRI and EEG should be repeated during follow-up period if the clinical suspicion still exists.

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Marchiafava-Bignami disease: Report of three cases

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Marchiafava-Bignami disease (MBD) is a rare alcohol-associated disorder characterized by demyelination and necrosis of the corpus callosum. We report three patients who had history of chronic alcoholism, different clinical presentation and MRI findings consistent with the diagnosis of Marchiafava-Bignami disease.

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[Treatment of painful diabetic polyneuropathy ]

KIS János Tibor

[Diabetic polyneuropathy can be present in up to 20-60% of diabetics, making it the most common complication of diabetes, but it is often undiagnosed. The diagnosis is mainly based on symptoms, but also several test options are available. For the prevention of neuropathy, long-term control of glycemic parameters is the most important. The pain caused by diabetic polyneuropathy affects 13-26% of diabetics. After the diagnosis, there are a number of treatment options that can be divided into causal and symptomatic therapy. The author summarizes therapeutic options from a practical point of view. ]

Lege Artis Medicinae

[STATE-OF-THE-ART DIAGNOSIS AND TREATMENT OF PITUITARY ADENOMAS SECRETING GROWTH HORMONE]

CZIRJÁK Sándor

[The history of the treatment of pituitary adenomas that cause acromegaly is as long as that of neurosurgery. While in the first half of the past century the aim of surgery was to save the patient's life, later the radical removal of the tumour was coupled with an effort to decrease complications, morbidity and mortality to the minimum. Today, beside all these, the complete sparing of the remaining hypophyseal substance and restoration of normal pituitary function are also important goals. The achievement of these goals is efficiently served by recent advances in microscopy, the minimally invasive methods of craniotomy, the availability of endoscopy in neurosurgery, three-dimensional computerguided neuronavigation, intraoperative colour Doppler sonography, as well as intraoperative real-time MRI. Recent developments in pharmacological research have created new promising conservative treatment modalities that supplement surgery, including somatostatin analogues and growth hormone receptor agonists. Also as supplementary treatment to surgery, occasionally replacing it, new radiosurgical methods, such as stereotaxic radiation, gamma knife, and heavy particle irradiation have gained grounds in neurosurgical practice.]

Lege Artis Medicinae

[PRIMARY TUMOURS OF UNKNOWN ORIGIN WITH CERVICAL LYMPH NODE METASTASES - A RETROSPECTIVE STUDY]

GARAI Tibor, NÉMETH Zsuzsanna, TOMPOS Tamás, ZEMPLÉN Béla

[ITRODUCTION - Primary tumours are defined unknown if, despite of the presence of histologically verified metastases, the site of origin cannot be revealed even with complex investigations. On average, 5% of patients with cervical lymph node metastases belong to this group. The incidence of cervical lymph node tumours increases with age, with more than 60% arising from malignancies in patients over 40. PATIENT AND METHODS - In this retrospective study, the authors review the history of 29 patients treated or examined in their department between January 2002 and November 2006 with the starting diagnosis of cervical lymph node metastasis from a primary tumour of unknown origin. All patients had a thorough physical examination, indirect upper respiratory tract endoscopy, and aspiration cytology. In the search for the primary tumour the use of both traditional X-ray studies and modern imaging techniques are justified. RESULTS - Of the 29 patients, five did not present after surgery, and one patient died. The location of the primary tumour could be determined in 12 of the remaining 23 patients during the follow-up period. These included the palatine tonsil in four cases, the lung in three patients, the lower pharynx in two patients, and one case each of the lingual radix, the larynx and the nasal pharynx. The histology of the metastases was mostly squamous cell carcinoma and they were located in the upper parajugular region. The investigation of the remaining patients is continued. CONCLUSION - In cases of cervical lymph node metastases that histologically turn out to be squamous cell carcinoma, the primary tumour should first be searched for in the head-and-neck region, followed by the lungs. On the other hand, high-grade nasopharyngeal carcinomas warrant the search in the Waldeyer ring. The authors emphasize the importance to keep the proper order of the diagnostic and therapeutic steps and to manage these patients in experienced institutions.]